Janet Koster

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Hans R. Waterham, Janet Koster, Carlo W.T. van Roermund et al. · New England Journal of Medicine · 2007 · 743 citations

Life Sciences, Genetics, Neuroscience +17

Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Hans R. Waterham, Janet Koster, G. J. Romeijn et al. · The American Journal of Human Genetics · 2001 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Hans R. Waterham, Janet Koster, P. A. W. Mooyer et al. · The American Journal of Human Genetics · 2003 · 214 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Frédéric M. Vaz, Coen C. Paulusma, Hidde H. Huidekoper et al. · Hepatology · 2014 · 212 citations · Full text

Life Sciences, Biochemistry, Clinical Nutrition +16

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes et al. · Human Mutation · 2010 · 156 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13